congenital myasthenic syndrome 13
Findings
No curated finding names congenital myasthenic syndrome 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013883), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased jitter at single fiber EMGHPOHP:0030205
- 4 of 4 reported patients
- Muscle fiber tubular inclusionsHPOHP:0100301
- 4 of 4 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 5 of 5 reported patients
- ScoliosisHPOHP:0002650
- 2 of 5 reported patients
- PtosisHPOHP:0000508
- 1 of 5 reported patients
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- Fatigable weaknessHPOHP:0003473
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DPAGT1HGNC:2995
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
7 names
Resolves to: congenital myasthenic syndrome 13
- Also called
- CMS13CMSTA2congenital myasthenic syndrome type 13congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1DPAGT1 congenital myasthenic syndromes with glycosylation defectmyasthenic syndrome, congenital, 13, with tubular aggregatesmyasthenic syndrome, congenital, type 13